LSM14B[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066383, LOC130066384 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	LOC130066362, LOC130066363 +355 more	Copy number gain	See cases	GPathogenic
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 2404977	NM_144703.3(LSM14B):c.337C>T (p.Pro113Ser)	LSM14B (P113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237137	NM_144703.3(LSM14B):c.341A>G (p.Tyr114Cys)	LSM14B (Y114C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470377	NM_144703.3(LSM14B):c.362C>T (p.Ala121Val)	LSM14B (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485995	NM_144703.3(LSM14B):c.370G>A (p.Gly124Ser)	LSM14B (G124S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121321	NM_144703.3(LSM14B):c.380C>T (p.Ala127Val)	LSM14B (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543671	NM_144703.3(LSM14B):c.412G>A (p.Ala138Thr)	LSM14B (A138T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290568	NM_144703.3(LSM14B):c.508A>G (p.Asn170Asp)	LSM14B (N170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594674	NM_144703.3(LSM14B):c.548C>T (p.Thr183Met)	LSM14B (T183M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121322	NM_144703.3(LSM14B):c.574C>T (p.Pro192Ser)	LSM14B (P192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467040	NM_144703.3(LSM14B):c.584A>G (p.Lys195Arg)	LSM14B (K195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121323	NM_144703.3(LSM14B):c.619C>G (p.Gln207Glu)	LSM14B (Q207E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216838	NM_144703.3(LSM14B):c.659A>G (p.Gln220Arg)	LSM14B (Q220R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363053	NM_144703.3(LSM14B):c.713G>A (p.Arg238His)	LSM14B (R238H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529308	NM_144703.3(LSM14B):c.733A>G (p.Asn245Asp)	LSM14B (N245D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538055	NM_144703.3(LSM14B):c.842A>G (p.Lys281Arg)	LSM14B (K281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121324	NM_144703.3(LSM14B):c.868C>G (p.Leu290Val)	LSM14B (L290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608116	NM_144703.3(LSM14B):c.904G>A (p.Glu302Lys)	LSM14B (E302K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532287	NM_144703.3(LSM14B):c.1006G>A (p.Ala336Thr)	LSM14B (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308028	NM_144703.3(LSM14B):c.1061G>A (p.Arg354His)	LSM14B (R354H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273459	NM_144703.3(LSM14B):c.1066C>T (p.Arg356Cys)	LSM14B (R356C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237578	NM_144703.3(LSM14B):c.1088G>A (p.Arg363Gln)	LSM14B (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121319	NM_144703.3(LSM14B):c.1115G>A (p.Arg372His)	LSM14B (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470774	NM_144703.3(LSM14B):c.1118G>A (p.Arg373His)	LSM14B (R373H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353785	NM_144703.3(LSM14B):c.1132C>T (p.His378Tyr)	LSM14B (H378Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 1808258	GRCh37/hg19 20q13.33(chr20:60621074-62915555)x3	ABHD16B, ADRM1 +63 more	Copy number gain	not provided	GUncertain significance
Select item 1526695	GRCh37/hg19 20q13.33(chr20:60473339-62915555)	OGFR, OPRL1 +64 more	Copy number gain	not specified	GUncertain significance
Select item 1526694	GRCh37/hg19 20q13.32-13.33(chr20:56835739-62915555)	LAMA5, LIME1 +88 more	Copy number gain	not specified	GPathogenic
Select item 1180535	GRCh37/hg19 20q13.2-13.33(chr20:51799648-62916626)x3	GATA5, ZBTB46 +116 more	Copy number gain	not provided	GPathogenic
Select item 816132	GRCh37/hg19 20q13.32-13.33(chr20:56788101-62762405)x3	BHLHE23, ZGPAT +87 more	Copy number gain	not provided	GPathogenic
Select item 816131	GRCh37/hg19 20q13.31-13.33(chr20:55743522-62032989)x3	CDH4, CHRNA4 +68 more	Copy number gain	not provided	GPathogenic
Select item 625661	GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881)	ADRM1, ANKRD60 +86 more	Copy number gain	not provided	GPathogenic
Select item 564619	GRCh37/hg19 20q13.33(chr20:60691126-60920798)x3	MTG2, LAMA5 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441724	GRCh37/hg19 20q13.2-13.33(chr20:51542616-62915555)x3	ABHD16B, ADRM1 +116 more	Copy number gain	See cases	GLikely pathogenic

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Items: 46